Albright syndrome is caused by a mutation in a gene that is imprinted. A is the wild-type allele and a is the mutant allele. A star (*) represents imprinting (methylation). The pedigree below shows a family with a history of Albright syndrome, and some of the genotypes of the first generation are labeled. aa* Aa* AA* I. 1 2 3 4 II. 1 2 3 III.
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- The DNA of every individual in the pedigree shown below has been sequenced at the causative locus. All the non-shaded individuals are wild type apart from III.1. III.1 has been proven to have the causative mutation for this autosomal dominant condition, but they exhibit no symptoms. Based on this small pedigree, what is the level of penetrance for the condition? Please give your answer as a WHOLE percentage, give the number only, no percentage symbol. Answer: The level of penetrance for the condition shown in the pedigree below is Blank 1 percent. 1:1 1:2 Il:1 I1:2 I1:3 Il:4 I1:5 I1:6 II:1 I:2 III:3 III:4 III:3 III:6 III:7 III:8 III:9 III:10 III:11 III12 II:13 III:14 IV:1 | IV:2 IV:3 IV:4 IV:5 IV:6 IV:7 IV:8 IV:9 IV:10 IV:11 IV:12 IV:13 IV:14 IV:15 IV:16 IV:17 IV:18 IV:19 V:1 V:2 V:3 V:4 V:5 V:6 V:7 V:8 V:9 V:10 V:11 V:12There are six types of agglutinogen named C,D, E and c,d,e.the first three are dominant and last three are recessive.discussA RFLP is discovered that is linked to the gene for Duchenne’s muscular dystrophy (DMD). DMD is an X-linked, recessive trait. The RFLP is 2 map units from the gene for DMD. Consider the following pedigree and Southern blot using a probe that hybridizes to the RFLP. Which band/s is/are associated with DMD? What is the genotype for individuals 3 and 4? (Remember, this is an X linked disease, so use X’s and Y’s to denote). Individual 9 married a man who does NOT have muscular dystrophy, and she is pregnant. DMD is an X-linked trait. What is the probability for their child to have DMD? An amniocentesis is performed and it is determined that 9’s child in utero has only a 10 kb band that hybridizes to the same probe used above. What can you say about the child now?
- There are two genetic disorders that result from mutation in imprinted genes: Prader-Willi syndrome, Angelman syndrome. Angelman syndrome results from deletion of UBE3A, which is a gene imprinted such that only the maternal copy is expressed. In the pedigree above, individual I-1 is heterozygous for a deletion of UBE3A and does not have Angelman syndrome. Individual I-2 is homozygous wild type for UBE3A. Which individuals in the pedigree are at risk for exhibiting Angelman syndrome, if any? (Who could potentially have the syndrome, based on what alleles it is possible for them to inherit and express?) Question 8 options: Only I-1 could have been at risk. If he does not have the syndrome, no one in the pedigree could. Only III-1 is at risk I-1, II-2, and III-1 are all at risk Only II-2 is at risk No one in the pedigree is at risk Both II-2 and III-1 are at…CIUSS O An organism has the genotype a g*/a"g*; qf"/q+f*;r+h+/rth*. Indicate the correct genes/ alleles at all the positions numbered 1-12 in the image below such that the diagram accurately represents the genotype of this organism. Note: assume the first chromosome in each pair shown in the genotype is the top chromosome shown in the diagram. 1 i 2: a gene g gene 6. q gene fgene 7 8. | 10 r gene h gene 12 Only place the genes/ alleles you need. You will not need them all. You may need to use some more than once. • gene / allele 1 a- ; gene / allele 2 g+ ; gene / allele 3 a- gene/allele 4 g++ • gene / allele 5 q- ; gene / allele 6 f- gene / allele 7 q+; gene / allele 8 f- gene / allele 9 r+; gene / allele 10 h+ gene / allele 11 r+ gene / allele 12 h+ a+ a- f+ f- g+ g- h+ h- q+ q- r+ r- 2.PLEASE ANSWER THE FOLLOWING LETTERS: a,b,c, and d Examine the pedigree of the McGraw family shown below. Certain individuals in this family are affected by a brain condition that makes them more susceptible to vertigo. As a genetic counselor, you interview the family and draw DNA samples. You discover that the condition is caused by a mutation that changes the sequence 5’GCATTC3’ to 5’GAATTC3’ introducing an EcoRI cut site. You decide to amplify a 1200bp fragment from the DNA that spans this mutation and then digest it with EcoRI. You run the results on a gel next to a marker that shows bands at 2000bp, 1200bp, 900bp, 800bp, and 400bp. Some individuals from the pedigree are identified on the gel.
- 151 Phenylketonuria (PKU) is a disorder caused by a recessive allele. Two carrier individuals have progeny. Answer the following questions in order and show solutions whenever relevant. Indicate the gene notation. Derive the expected genotypic and phenotypic ratios.Below is a pedigree of a family with a history of Best disease (or vitelliform macular dystrophy). All members of this family underwent ASO testing using two different oligonucleotides (ASO 1 and ASO 2): one that hybridizes to the only known mutation that leads to Best disease and one that hybridizes to the wild-type gene sequence in the same region. From the information you have, how is Best disease most likely inherited? 1. II. III. 0 0 0 0 0 1 ? autosomal dominant autosomal recessive x-linked recessive x-linked dominant you cannot determine ASO 1 ASO 2 1-1 1-2 II-1 11-2 11-3Familial retinoblastoma, a rare autosomal dominant defect, arose in a large family that had no prior history of the disease. Consider the following pedigree (the darkly colored symbols represent affected individuals): a. Circle the individual(s) in which the mutation most likely occurred. b. Is the person who is the source of the mutation affected by retinoblastoma? Justify your answer. c. Assuming that the mutant allele is fully penetrant, what is the chance that an affected individual will have an affected child?
- A proband female with an unidentified disease seeks the advice of a genetic counselor before starting a family. Based on the following data, the counselor constructs a pedigree encompassing three generations: (1) The maternal grandfather of the proband has the disease. (2) The mother of the proband is unaffected and is the youngest of five children, the three oldest being male. (3) The proband has an affected older sister, but the youngest siblings are unaffected twins (boy and girl). (4) All the individuals who have the disease have been revealed. Duplicate the counselors featWhich members of the pedigree could have been carriers, and which might have been the source of the mutation?Given the karyotype shown at right, is this a male or a female? Normal or abnormal? What would the phenotype of this individual be?